|
21. |
Premature thelarche in Kabuki make‐up syndrome |
|
Pediatrics International,
Volume 36,
Issue 1,
1994,
Page 104-106
H ERCAN TUTAR,
GÖNÜL ÖCAL,
ERDAL İNCE,
ŞÜKRÜ CİN,
Preview
|
PDF (355KB)
|
|
摘要:
AbstractA 2 year old girl who has Kabuki make‐up syndrome with isolated premature thelarche is presented. She has unique ocular abnormalities which have not been reported previously. In the literature at least 85 patients, most of them from Japan, have been reported. This is the first reported non‐Japanese Asian c
ISSN:1328-8067
DOI:10.1111/j.1442-200X.1994.tb03141.x
出版商:Blackwell Publishing Ltd
年代:1994
数据来源: WILEY
|
22. |
A case of pseudo‐Bartter's syndrome due to intestinal malrotation |
|
Pediatrics International,
Volume 36,
Issue 1,
1994,
Page 107-111
RIE KOSHIDA,
SHINOBU SAKAZUME,
HIROAKI MARUYAMA,
NORIHIKO OKUDA,
KAZUNORI OHAMA,
SHUJI ASANO,
Preview
|
PDF (467KB)
|
|
摘要:
AbstractIntestinal malrotation presenting beyond the neonatal period is associated with a multiplicity of symptoms, which are often non‐specific and, consequently, are associated with delays in diagnosis. Pseudo‐Bartter's syndrome, which mimics the manifestations of Bartter's syndrome, can be caused by a severe chloride deficiency secondary to vomiting, diarrhea, perspiration, diuretic abuse and so on.We describe a 6 year old boy who had been admitted to hospital three times during the preceding year. The patient lapsed into a critical condition with profound hypochloremia and hypokalemic metabolic alkalosis induced by extremely massive vomiting. The attacks of vomiting were spasmodic and self‐limited. During the episodes of vomiting he fulfilled the criteria of pseudo‐Bartter's syndrome, including hyperreninemia, hyperaldosteronism and normal blood pressure, but in the intervals between attacks he was completely asymptomatic. At the third admission, examination supported an overall clinical picture of bowel obstruction, which was confirmed by radiographic examination. Laparotomy revealed a midgut volvulus with intestinal malrotation. After surgery he made a good recovery and was symptom‐free.In this patient, the high degree of hypochloremia and hypovolemia activated the renin‐angiotensin‐aldosterone system, then aldosterone promoted intensive reabsorption of sodium and excretion of potassium into the urine. Consequently the diagnosis of pseudo‐Bartter's syndrome was established on the basis of an extreme decrease in urinary chloride and an increase in urinary potassium concentration.It is relatively rare for vomiting due to intestinal malrotation to induce pseudo‐Bartter's syndrome. The importance of considering this rare diagnosis in such c
ISSN:1328-8067
DOI:10.1111/j.1442-200X.1994.tb03142.x
出版商:Blackwell Publishing Ltd
年代:1994
数据来源: WILEY
|
23. |
Free carnitine and short‐chain acylcarnitines in cerebrospinal fluid of patients with disorders of propionate metabolism determined by fast atom bombardment and tandem mass spectrometry |
|
Pediatrics International,
Volume 36,
Issue 1,
1994,
Page 112-115
YOSUKE SHIGEMATSU,
AKIO NAKAI,
YUAN‐YING LIU,
YOSHIHARU KIKAWA,
MASAKATSU SUDO,
MAMORU FUJIOKA,
Preview
|
PDF (284KB)
|
|
ISSN:1328-8067
DOI:10.1111/j.1442-200X.1994.tb03143.x
出版商:Blackwell Publishing Ltd
年代:1994
数据来源: WILEY
|
24. |
Portal sandwich sign in patients with biliary atresia |
|
Pediatrics International,
Volume 36,
Issue 1,
1994,
Page 116-118
MICHIRU NAKAMURA,
AKIRA MATSUI,
NOBUYUKI TANIGUCHI,
FUKIKO KAWAI,
NOBUHIKO SASAKI,
KOUICHI ITOH,
Preview
|
PDF (348KB)
|
|
ISSN:1328-8067
DOI:10.1111/j.1442-200X.1994.tb03144.x
出版商:Blackwell Publishing Ltd
年代:1994
数据来源: WILEY
|
25. |
Announcements |
|
Pediatrics International,
Volume 36,
Issue 1,
1994,
Page 119-121
Preview
|
PDF (179KB)
|
|
ISSN:1328-8067
DOI:10.1111/j.1442-200X.1994.tb03145.x
出版商:Blackwell Publishing Ltd
年代:1994
数据来源: WILEY
|
|